Canonical Allele Identifier: CA540207428

Gene: COL4A4

Linked Data

• dbSNP Id: rs1465478649
• gnomAD v2: 2-227873125-TGGA-T
• gnomAD v3: 2-227008409-TGGA-T
• gnomAD v4: 2-227008409-TGGA-T
• MyVariant Identifiers: chr2:g.227873126_227873128del (hg19) ; chr2:g.227008410_227008412del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.227008412_227008414del , CM000664.2:g.227008412_227008414del	GRCh38
NC_000002.11:g.227873128_227873130del , CM000664.1:g.227873128_227873130del	GRCh37
NC_000002.10:g.227581372_227581374del	NCBI36
NG_011592.1:g.161148_161150del , LRG_231:g.161148_161150del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682098.1:c.190-173_190-171del	ENSP00000508331.1:n.190-173_190-171del
ENST00000396625.5:c.4523-108_4523-106del MANE Select	ENSP00000379866.3:n.4523-108_4523-106del
ENST00000396625.3:c.4523-108_4523-106del	ENSP00000379866.3:n.4523-108_4523-106del
NM_000092.4:c.4523-108_4523-106del , LRG_231t1:c.4523-108_4523-106del	NP_000083.3:n.4523-108_4523-106del
XM_005246281.2:c.4523-108_4523-106del	XP_005246338.1:n.4523-108_4523-106del
XM_005246282.2:c.3968-108_3968-106del	XP_005246339.1:n.3968-108_3968-106del
XM_006712246.2:c.4334-108_4334-106del	XP_006712309.1:n.4334-108_4334-106del
XM_006712249.2:c.4523-108_4523-106del	XP_006712312.1:n.4523-108_4523-106del
XM_006712252.2:c.4216+13636_4216+13638del	XP_006712315.1:n.4216+13636_4216+13638del
XM_011510557.1:c.4442-108_4442-106del	XP_011508859.1:n.4442-108_4442-106del
XM_011510558.1:c.4415-108_4415-106del	XP_011508860.1:n.4415-108_4415-106del
XM_011510559.1:c.4523-108_4523-106del	XP_011508861.1:n.4523-108_4523-106del
XM_011510560.1:c.4523-108_4523-106del	XP_011508862.1:n.4523-108_4523-106del
XM_011510561.1:c.4523-108_4523-106del	XP_011508863.1:n.4523-108_4523-106del
XM_011510562.1:c.4523-108_4523-106del	XP_011508864.1:n.4523-108_4523-106del
XM_011510563.1:c.4334-173_4334-171del	XP_011508865.1:n.4334-173_4334-171del
XM_011510564.1:c.4217-173_4217-171del	XP_011508866.1:n.4217-173_4217-171del
XM_011510565.1:c.4216+13636_4216+13638del	XP_011508867.1:n.4216+13636_4216+13638del
XM_011510566.1:c.4216+13636_4216+13638del	XP_011508868.1:n.4216+13636_4216+13638del
XM_011510567.1:c.4216+13636_4216+13638del	XP_011508869.1:n.4216+13636_4216+13638del
XM_011510569.1:c.4216+13636_4216+13638del	XP_011508871.1:n.4216+13636_4216+13638del
XM_011510570.1:c.4216+13636_4216+13638del	XP_011508872.1:n.4216+13636_4216+13638del
XM_011510571.1:c.4216+13636_4216+13638del	XP_011508873.1:n.4216+13636_4216+13638del
XM_011510572.1:c.2849-108_2849-106del	XP_011508874.1:n.2849-108_2849-106del
XR_922837.1:n.4833-108_4833-106del
XR_922838.1:n.4833-108_4833-106del
XR_922839.1:n.4526+13636_4526+13638del
XR_922840.1:n.4526+13636_4526+13638del
XM_005246281.3:c.4523-108_4523-106del	XP_005246338.1:n.4523-108_4523-106del
XM_005246282.3:c.3968-108_3968-106del	XP_005246339.1:n.3968-108_3968-106del
XM_006712246.3:c.4334-108_4334-106del	XP_006712309.1:n.4334-108_4334-106del
XM_011510557.2:c.4442-108_4442-106del	XP_011508859.1:n.4442-108_4442-106del
XM_011510558.2:c.4415-108_4415-106del	XP_011508860.1:n.4415-108_4415-106del
XM_011510559.2:c.4523-108_4523-106del	XP_011508861.1:n.4523-108_4523-106del
XM_011510560.2:c.4523-108_4523-106del	XP_011508862.1:n.4523-108_4523-106del
XM_011510561.2:c.4523-108_4523-106del	XP_011508863.1:n.4523-108_4523-106del
XM_011510562.2:c.4523-108_4523-106del	XP_011508864.1:n.4523-108_4523-106del
XM_011510565.2:c.4216+13636_4216+13638del	XP_011508867.1:n.4216+13636_4216+13638del
XM_011510566.2:c.4216+13636_4216+13638del	XP_011508868.1:n.4216+13636_4216+13638del
XM_011510567.2:c.4216+13636_4216+13638del	XP_011508869.1:n.4216+13636_4216+13638del
XM_011510569.2:c.4216+13636_4216+13638del	XP_011508871.1:n.4216+13636_4216+13638del
XM_011510570.2:c.4216+13636_4216+13638del	XP_011508872.1:n.4216+13636_4216+13638del
XM_011510572.3:c.2849-108_2849-106del	XP_011508874.1:n.2849-108_2849-106del
XM_017003296.1:c.4523-108_4523-106del	XP_016858785.1:n.4523-108_4523-106del
XM_017003297.1:c.4406-108_4406-106del	XP_016858786.1:n.4406-108_4406-106del
XM_017003298.1:c.4523-108_4523-106del	XP_016858787.1:n.4523-108_4523-106del
XM_017003300.1:c.4216+13636_4216+13638del	XP_016858789.1:n.4216+13636_4216+13638del
XR_001738602.1:n.4849-108_4849-106del
XR_001738603.1:n.4849-108_4849-106del
XR_001738604.1:n.4660-173_4660-171del
XR_001738606.1:n.4542+13636_4542+13638del
XR_001738607.1:n.4542+13636_4542+13638del
XR_922837.2:n.4849-108_4849-106del
NM_000092.5:c.4523-108_4523-106del MANE Select	NP_000083.3:n.4523-108_4523-106del